Epidemiology | There were 13 males and 10 females (1 unknown) aged 8 to 90 years old (median 65 years) in a group of patients with 1q11-12 translocations (Table 1). Patients with 1q25-32 translocations tended to be younger and included 6 males and 5 females aged 0 to 72 years (median age 17 years), 2 of them were infants (Felix et al., 1998; Chessells et al., 2002) (Table 2). | SEX/AGE | DISEASE | KARYOTYPE | MYELOPROLIFERATIVE DISORDERS | 1 | M/68 | CMML | 46,XY,der(21)t(1;21)(q11;p11) | 2 | F/76 | PV | 46,XX,der(4)t(1;4)(q12;p16)/46,XX,der(21)t(1;21)(q12;p12) | 3 | F | ET | 46,XX,der(21)t(1;21)(q11;p13) | MYELODYSPLASTIC SYNDROME | 4 | M/56 | MDS APL-like | 47,XY,+11 47,XY,t(4;11)(q10;p15),+11/48,idem,+8/48,idem,+11/48,idem,+13/48,idem,+17/48,idem,+19/47,idem,der(22)t(1;22)(q12;p13) 47,XY,t(4;11),+11,der(21)t(1;21)(q12;p13) | 5 | F/75 | RARS | 46,XX,del(20)(q11)/46,idem,der(21)t(1;21)(q12;p11) | 6 | F/80 | RAEB | 46,XX,der(21)t(1;21)(q10;p10) | ACUTE MYELOID LEUKEMIA | 7 | M/36 | AML | 58,XY,-X,-1,-3,-4,-5,+6,-7,-9,-10,-12,der(15)t(1;15)(q12;p11),-16,-17,-18,-21/58,idem,-der(15),der(21)t(1;21)(q12;p11)/47,XY,+8 | ACUTE LYMHOBLASTIC LEUKEMIA | 8 | M | B-ALL | 46,XY,der(19)t(1;19)(q23;p13)/46,idem,der(21)t(1;21)(q12;p13) | 9 | F | ALL | 46,XX,der(19)t(1;19)(q23;p13)/46,idem,der(21)t(1;21)(q11;p11) | 10 | M | ALL | 46,XY,del(13)(q1?2),der(21)t(1;21)(q12;p12) | 11 | | B-ALL | 46,X?,der(1)t(1;19)(q23;p13),i(7)(q10),der(21)t(1;21)(q12;p13) | 12 | M | B-ALL | 46,XY,del(6)(q13q23),der(19)t(1;19)(q23;p13)/46,idem,der(21)t(1;21)(q12;p11) | MULTIPLE MYELOMA | 13 | M | MM | 43,X,-Y,+1,der(1;15)(q10;q10),der(4)t(1;4)(q11;q35),-13,-14,der(21)t(1;21)(q11;p11),-22 /td> | 14 | F | MM | 44,X,-X,der(6)add(6)(p25)t(1;6)(q12;q12),?inv(7)(p14p22),del(8)(p11),-13,del(20)(q12),der(21)t(1;21)(q10;p11) | 15 | F | MM | 44-45,XX,del(1)(p13p32),t(2;14)(p23;q32),t(4;14)(p16;q32),add(5)(q33),der(5)t(1;5)(q10;p15),der(7;7) t(7;7)(p22;?q33)add(7)(p22),-13,del(14)(q24),der(21)t(19;21)(?p13;p11),add(21)(p11)/45,XX,der(1) del(1)add(1)(q32),t(2;14),t(4;14)(p16;q32),add(5),der(5)t(1;5)(q11-12;p15),-13,del(14),der(19)t(1;19) (q11-12;q13),der(21)t(19;21),add(21)/45,XX,der(1)del(1)add(1),t(2;14),t(4;14)(p16;q32),add(5),der(5)t(1;5),-13,del(14),der(14)del(14)t(1;14)(q11-12;q24),der(21)t(19;21),add(21)/45,XX,der(1)del(1)add(1), t(2;14),t(4;14)(p16;q32),add(5),der(5)t(1;5),-13,del(14),der(21)t(1;21)(q11-12;p11),der(21)t(19;21), add(21) | 16 | F | MM | 46,X,-X,add(1)(q21),ider(1)(q10)del(1)(q42),?del(5)(p15),+hsr(7)(p15),der(8)t(1;8)(p13;q24),+add(9) (p12),der(10)t(1;10)(q21;p13)add(10)(q26),del(11)(q21q23),del(13)(q12q22),i(13)(q10),-14,add(15)(q26),der(18)t(1;18)(q12;q23),add(20)(q13),der(21)t(1;21)(q12;p13)ins(21;?)(p13;?),add(22)(p11) | NON HODGKIN LYMHOMA | 17 | M/8 | MBN | 46,XY,der(8)t(7;8)(q21;q24)dup(7)(q21q36),der(14)t(8;14)(q24;q32),der(21)t(1;21)(q11;p13) | 18 | M | MBN | 42-47,XY,add(3)(q11),add(8)(q24),der(14)t(8;14)(q24;q32),t(14;18)(q32;q21),del(16)(q13),+20/42-47, idem,der(21)t(1;21)(q11;p11)/47-48,idem,+X/47-48, idem,+7/49,idem,+X,+7 LN | 19 | F | FL | 49-50,X,del(X)(p21),dic(1;12)(?p21;q24),t(3;4)(q27;p13),+i(6)(p10),t(14;18)(q32;q21),i(17)(q10), +add(19)(q13),der(21)t(1;21)(q11;p11),+2mar LN | 20 | F | FL | 42-54,XX,t(6;7)(p21;q22),+7,+der(7)t(6;7),t(8;14)(q24;q32),+11,+11,+12,+der(14)t(8;14),+21,der(21)t(1;21)(q12;p13)x2 LN | 21 | M | DLBCL | 46,X,-Y,add(1)(p32),dup(1)(q21q31),t(3;14)(q27;q32),add(8)(p11),del(9)(p11),der(21)t(1;21)(q12;p13), +mar LN LN | 22 | M/90 | BL | 46,XY,t(8;14)(q24;32),der(21)t(1;21)(q14;p12) LN | OTHERS | 23 | M/65 | PCL | 82-87,XXY,-Y,-1,-2,-3,-4,-5,del(6)(q21)x2,-8,del(8)(p21),-10,-10,add(11)(p15)x2,-13,-13,-14,-15,-15,-18, +19,der(20)t(1;20)(q11;q13)ins(20;?)(q13;?)x2,der(21)t(1;21)(q11;p13)ins(21;?)(p13;?),-22,inc | 24 | M/30 | HD | 46,X,-Y,del(4)(q28),+8,add(9)(p24),der(14)t(1;14)(q11;p11),der(21)t(1;21)(q11;p11) LN | Abbreviations: M, male; F, female; CMML, Chronic myelomonocytic leukemia; PV, Polycythemia vera; ET, Essential thrombocythemia; MDS, Myelodysplastic syndrome; APL, Acute promyelocytic leukemia; RARS, Refractory anemia with ringed sideroblasts; RAEB, Refractory anemia with excess of blasts; AML, Acute myeloid leukemia; ALL, Acute lymphoblastic leukemia/lymphoblastic lymphoma; MM, Multiple myeloma; MBN, Mature B-cell neoplasm; LN, lymph node; FL, Follicular lymphoma; DLBCL, Diffuse large B-cell lymphoma; BL, Burkitt lymphoma/leukemia; PCL, Plasma cell leukemia; HD, Hodgkin disease. 1. Amenomori et al., 1986; 2. Juneau et al., 1998; 3. Gangat et al., 2009; 4. Najfeld et al., 1994; 5. Huh et al., 2010; 6. Makishima et al., 2013; 7. Liu et al., 2007; 8. Raimondi et al., 1990; 9. Uckun et al., 1998; 10. Heerema et al., 2000; 11. Lu et al., 2002; 12. Bousquet et al., 2007; 13. Sawyer et al., 1998; 14. Sawyer et al., 1998; 15. Gabrea et al., 2008; 16. Sawyer et al., 2014; 17. Dayton et al., 1994; 18. Schmitz et al., 1997; 19. Roumier et al., 2000; 20. Katzenberger et al., 2004; 21. Ruminy et al., 2006; 22. Trcic et al., 2010; 23. Andreasson et al., 1998; 24. Stamatoullas et al., 2007 | SEX/AGE | DISEASE | KARYOTYPE | ACUTE MYELOID LEUKEMIA | 1 | M/0 | AML-M5 | 46,XY,der(1)t(1;1)(p36;q21)/45,idem,-Y/47,idem,+8/46,XY,der(21)t(1;21)(q21;p11) | B-CELL ACUTE LYMHOBLASTIC LEUKEMIA | 2 | M | ALL | 46,XY,der(21)t(1;21)(q21;p13)dup(1)(q21q32) | 3 | F/0 | ALL | 47,XX,+X,t(11;19)(q23;p13),der(21)t(1;21)(q25;p11) | 4 | M/11 | ALL | 46,XY,del(6)(q13q21),der(19)t(1;19)(q23;p13),der(21)t(1;21)(q21;p11) | 5 | M/50 | ALL | 46,XY,der(8)t(8;9)(p22;p24)t(8;22)(q24;q11),der(9)t(8;9)(p21;p24),der(21)t(1;21)(q21;p11),der(22)t(8;22) (q24;q11) 46,XY,t(8;9)(q22;q24) 46,XY,der(8),der(9)x2,der(21),der(22)/46,idem,der(16)t(16;22)(q24;q11) | T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA | 6 | M/72 | ALL | 46,XY,der(21)t(1;21)(q25;p11) | MULTIPLE MYELOMA | 7 | F | MM | 39-41,-X,der(X)t(X;18)(q28;q11)ins(X;?)(q28;?),t(1;8)(p11-13;q24),add(2)(p25),dup(3)(q21q29), add(4)(q?31),t(4;14)(p16;q32),add(7)(p22),-8,der(9;17)(p10;q10),der(10)t(8;10)(q11;p13),-13,-14, add(15)(p11),der(15)t(9;15)(q12;p11),der(18)t(X;18),add(19)(q13),+20, der(21)t(1;21)(q23;p11) ins(21;?)(p11;?),+mar | 8 | F | MM | 39-45,XX,der(1;21)(p10;q10),+r(?1)(p13q?31),der(2)t(1;2)(q12;q37),add(3)(q29),der(4;18)(p10;q10), add(5)(q34),+7,add(10)(q26),add(12)(p12),-13,add(15)(p11),der(15)t(?14;15)(q31;q24),add(17)(q25), der(19)t(?7;19)(p13;q13),add(20)(p12),der(21)t(1;21)(q?31;p13) | NON HODGKIN LYMHOMA | 9 | F/17 | BL | 46,XX,del(7)(q22q32),t(8;14)(q24;q32)/46,idem,t(1;18)(q11;p11)/46,idem,t(1;21)(q11;p11) 48,X,der(X)t(X;8)(q11;q11),+del(3)(q21q29),t(3;16)(p12;q24),+del(7),t(8;14),?del(14)(q11q21), der(21)t(1;21)(q21;p13) | 10 | F/67 | DLBCL | 51-56,XX,+X,+del(1)(q21),+2,+5,+6,+7,+del(8)(q24),+9,+10,+11,+13,+14,+17,+20,-21,der(21 t(1;21)(q21;p11),-22,-22,+2mar exudate | OTHERS | 11 | M/65 | MF/SS | 45,XY,der(1)t(1;17)(p13;q21),t(2;5)(p14;q14),t(3;7)(p21;q35),t(4;9)(p?15;p?22),-5,-6,-9,-11,del(12)(q22),-17,-19,add(19)(q13),der(21)t(1;21)(q32;p13),+5mar |
Abbreviations: M, male, f, female, BL, AML-M5, Acute monoblastic leukemia; ALL, Acute lymphoblastic leukemia; MM, Multiple myeloma; Burkitt lymphoma/leukemia; DLBCL, Diffuse large cell lymphoma; MF/SS, Mycosis fungoides/Sezary syndrome. 1. Chessells et al., 2002; 2. Raimondi et al., 1990; 3. Felix et al., 1998; 4. Andersen et al., 2011; 5. Patterer et al., 2013; 6. Safavi et al., 2015; 7. Gabrea et al., 2008; 8. Sawyer et al., 2014; 9. Fitzgerald et al., 1984; 10. Gladstone et al., 1994; 11. Schlegelberger et al., 1994. Patients with centromeric 1q11-12 translocations were diagnosed mainly with myeloid malignancies and lymphomas Myeloid malignancies in 7: 1 chronic myelomonocytic leukemia (CMML) (Amenomori et al., 1986), 1 myelodysplastic syndrome (MDS)/ acute promyelocytic leukemia (APL)-like leukemia (Najfeld et al 1994), 1 polycythemia vera (PV) (Juneau et al., 1998), 1 essential thrombocythemia (ET) (Gangat et al., 2009), 1 refractory anemia with ringed sideroblasts (RARS) (Huh et al., 2010), 1 refractory anemia with excess of blasts (RAEB) (Makishima et al., 2013) and 1 acute myeloid leukemia (AML) (Liu et al., 2007). Acute lymphoblastic leukemia in 5 (Raimondi et al., 1990; Uckun et al., 1998; Heerema et al., 2000; Lu et al., 2002; Bousquet et al., 2007). Multiple myeloma in 4 (Sawyer et al., 1998; Gabrea et al., 2008; Sawyer et al., 2014). Various lymphoid malignancies in 7: 2 mature B-cell neoplasm (MBN) (Schmitz et al., 1997; Dayton et al., 1994), 1 Burkitt lymphoma/leukemia (BL) (Trcic et al., 2010), 1 Plasma cell leukemia (PCL) (Andreasson et al., 1998), 2 follicular lymphoma (FL) (Roumier et al., 2000; Katzenberger et al., 2004), 1 diffuse large B-cell lymphoma (DLBCL) (Ruminy et al., 2006) and 1 HD (Hodgkin disease) (Stam atoullas et al., 2007). der(21)t(1;21) with 1q21-32 breakpoints was less frequent and has been detected mainly in patients with ALL: 4 of them were diagnosed with B-cell ALL (Raimondi et al 1990; Felix et al., 1998; Andersen et al., 2011; Patterer et al., 2013) and 1 patient with T-ALL (Safavi et al., 2015). In addition, there were sporadic cases with other malignancies: 1 acute monoblastic leukemia (AML-M5) (Chessells et al., 2002), 1 diffuse large B-cell lymphoma (DLBCL), 1 Burkitt lymphoma/leukemia (BL) (Fitzgerald et al., 1984), 1 mycosis fungoides/Sezary syndrome (MF/SS) (Schlegelberger et al., 1994) and 2 multiple myeloma patients (Gabrea et al., 2008; Sawyer et al., 2014). |